Incidental Mutation 'IGL01684:Zfp385b'
ID103880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp385b
Ensembl Gene ENSMUSG00000027016
Gene Namezinc finger protein 385B
SynonymsC130013B13Rik, Zfp533, B830010L13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01684
Quality Score
Status
Chromosome2
Chromosomal Location77410634-77819639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77719675 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 22 (D22G)
Ref Sequence ENSEMBL: ENSMUSP00000107460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090766] [ENSMUST00000111829] [ENSMUST00000111831]
Predicted Effect probably benign
Transcript: ENSMUST00000090766
AA Change: D22G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: D22G

DomainStartEndE-ValueType
ZnF_U1 30 65 3.07e-4 SMART
ZnF_C2H2 34 58 3.21e1 SMART
low complexity region 66 81 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
ZnF_U1 166 200 9.3e-4 SMART
ZnF_C2H2 169 193 5.07e0 SMART
low complexity region 245 256 N/A INTRINSIC
ZnF_U1 294 328 2.29e-3 SMART
ZnF_C2H2 297 321 1.47e1 SMART
ZnF_U1 357 391 8.09e-4 SMART
ZnF_C2H2 360 384 6.57e-1 SMART
low complexity region 429 452 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111829
AA Change: D22G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107460
Gene: ENSMUSG00000027016
AA Change: D22G

DomainStartEndE-ValueType
Pfam:zf-met 33 58 3.2e-9 PFAM
Pfam:zf-C2H2_jaz 34 59 9.1e-8 PFAM
low complexity region 66 81 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111831
AA Change: D22G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: D22G

DomainStartEndE-ValueType
ZnF_U1 30 65 3.07e-4 SMART
ZnF_C2H2 34 58 3.21e1 SMART
low complexity region 66 81 N/A INTRINSIC
low complexity region 83 92 N/A INTRINSIC
ZnF_U1 166 200 9.3e-4 SMART
ZnF_C2H2 169 193 5.07e0 SMART
low complexity region 245 256 N/A INTRINSIC
ZnF_U1 294 328 2.29e-3 SMART
ZnF_C2H2 297 321 1.47e1 SMART
ZnF_U1 357 391 8.09e-4 SMART
ZnF_C2H2 360 384 6.57e-1 SMART
low complexity region 429 452 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,771,768 V21F probably damaging Het
Aox1 G A 1: 58,077,581 probably null Het
BC024139 A G 15: 76,124,685 L283P probably damaging Het
Cacna1h C T 17: 25,388,716 G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 D182E probably benign Het
Clk1 A G 1: 58,417,265 probably null Het
Dhx34 G A 7: 16,203,279 T831M probably damaging Het
Enox1 T C 14: 77,579,093 I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 S460L probably benign Het
Gramd1a A G 7: 31,138,905 S308P possibly damaging Het
Guca1a T C 17: 47,395,143 D137G probably null Het
Heatr5a G A 12: 51,955,511 T214I probably benign Het
Klf7 T C 1: 64,120,892 probably benign Het
Macf1 A G 4: 123,465,930 S1854P probably damaging Het
Mau2 A T 8: 70,029,245 probably benign Het
Mdn1 A G 4: 32,726,857 I2639V probably benign Het
Mylk A G 16: 34,971,940 M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 N286S probably damaging Het
Pcm1 A G 8: 41,257,923 T77A probably benign Het
Piezo2 T A 18: 63,083,170 I947F probably damaging Het
Prrc2c A T 1: 162,706,462 probably benign Het
Ptch2 A G 4: 117,104,787 E107G probably damaging Het
Rmdn3 T C 2: 119,147,574 E182G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 noncoding transcript Het
Sorl1 T C 9: 41,980,711 D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 N283S probably benign Het
Tcf20 A G 15: 82,857,160 F30S probably damaging Het
Tiparp A T 3: 65,553,333 K581I probably damaging Het
Tle3 T C 9: 61,403,446 probably benign Het
Ubr3 C A 2: 70,016,158 Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 T154A probably benign Het
Vta1 A G 10: 14,684,131 I115T probably damaging Het
Wwtr1 C A 3: 57,575,789 R31L probably damaging Het
Zfp516 A G 18: 82,957,201 E508G probably damaging Het
Zfp735 T A 11: 73,690,365 V76E possibly damaging Het
Other mutations in Zfp385b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp385b APN 2 77476778 missense probably damaging 1.00
IGL02354:Zfp385b APN 2 77450303 missense probably damaging 1.00
IGL02361:Zfp385b APN 2 77450303 missense probably damaging 1.00
IGL02939:Zfp385b APN 2 77412059 missense probably benign 0.00
R0008:Zfp385b UTSW 2 77415947 missense probably benign 0.27
R0008:Zfp385b UTSW 2 77415947 missense probably benign 0.27
R0243:Zfp385b UTSW 2 77415728 critical splice donor site probably null
R0403:Zfp385b UTSW 2 77476845 missense probably damaging 0.97
R1566:Zfp385b UTSW 2 77415913 missense probably benign 0.05
R1799:Zfp385b UTSW 2 77415972 missense probably benign 0.13
R3618:Zfp385b UTSW 2 77415889 missense probably benign
R3619:Zfp385b UTSW 2 77415889 missense probably benign
R4007:Zfp385b UTSW 2 77719492 missense probably benign 0.00
R6290:Zfp385b UTSW 2 77450268 missense possibly damaging 0.90
R6298:Zfp385b UTSW 2 77413979 missense possibly damaging 0.83
R6383:Zfp385b UTSW 2 77415841 missense probably benign 0.01
R6482:Zfp385b UTSW 2 77719648 small insertion probably benign
R6484:Zfp385b UTSW 2 77719648 small insertion probably benign
R6856:Zfp385b UTSW 2 77415794 missense probably damaging 1.00
R7276:Zfp385b UTSW 2 77450280 missense probably damaging 1.00
R8692:Zfp385b UTSW 2 77719627 missense probably damaging 1.00
R8982:Zfp385b UTSW 2 77411956 missense probably damaging 0.96
Posted On2014-01-21